P42H (p.Pro42His) variant of CA2 (Carbonic anhydrase 2)
P42H (p.Pro42His) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P42H (p.Pro42His) variant details
- p.Pro42His
- gnomAD rs1811612182
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- AlphaMissense 0.16
- MetaLR 0.31
- MetaSVM -0.63
- CADD 22.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available